The individual tests will be reported as they become available. Tests will be reported individually and no comprehensive summary of the testing is provided.

Special Notes:

Severe combined immunodeficiency disorder (SCID), is a rare, primary immune deficiency. The defining characteristic is usually a severe defect in both the T- and B-lymphocyte systems. This usually results in the onset of one or more serious infections within the first few months of life. Newborn screening in many states now detects individuals at risk for this complex disorder, which has multiple genetic causes, not all known. The Medical Genetics Laboratories have developed a panel of tests to follow-up an abnormal newborn screening result toward determining an etiology for the abnormal screen. This panel includes urine purine panel (#4220), enzymatic analysis of purine nucleoside phosphorylase (#4592) and adenosine deaminase (#4509), and chromosome microarray analysis (#8655) for detection of deletion 22q11 (DiGeorge syndrome) and other CNVs associated with genes involved in this complex condition.

Please note that samples must be shipped overnight under 2 separate shipping conditions. Blood must be shipped at ambient temperature. Urine must be shipped frozen with dry ice.